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10.3760/cma.j.issn.1003-9406.2019.08.013 http://scihub22266oqcxt.onion/10.3760/cma.j.issn.1003-9406.2019.08.013 31400133!ä!31400133 Warning: Undefined variable $yww in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 538 Warning: Undefined variable $yww in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 538       Zhonghua+Yi+Xue+Yi+Chuan+Xue+Za+Zhi 2019 ; 36 (8): 805-808 Nephropedia Template TP {{tp|p=31400133|t=2019. Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia |pdf=|usr=}}{{31400133}} gab.com Text Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia JO: Zhonghua Yi Xue Yi Chuan Xue Za Zhi http://www.kidney.de/pget.php?&tw=1&pmid=31400133 #FOAvip OBJECTIVE: To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia. METHODS: Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents. RESULTS: The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity. CONCLUSION: The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient. Twit Text FOAVip Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia ????Zhonghua Yi Xue Yi Chuan Xue Za Zhi http://www.kidney.de/pget.php?&tw=1&pmid=31400133 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=31400133 #FOAvip English Wikipedia <ref>{{Cite pmid|31400133}}</ref> Analysis of TRPM6 gene variant in a pedigree affected with hypocalcemia secondary to hypomagnesemia #MMPMID31400133 Tan J; Yan T; Li Z; Huang J; Cai R Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019[Aug]; 36 (8): 805-808 PMID31400133show ga OBJECTIVE: To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia. METHODS: Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents. RESULTS: The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity. CONCLUSION: The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient. |Heterozygote[MESH] |Humans[MESH] |Hypocalcemia/*genetics[MESH] |Magnesium[MESH] |Magnesium Deficiency/*genetics[MESH] |Male[MESH] |Pedigree[MESH] Analysis of TRPM6 gene variant in a pedigree affected with hypocalcem(epmc).pdf DeepDyve Pubget Overpricing